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Variant (rsID / SNP)

rs773684291

MKS1

rs773684291 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKS1. Location: chromosome 17, position 56,285,320. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MKS1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:56285320
Cytoband
17q22
HGVS
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
Allele change
Missense_S403L

Associated conditions / phenotypes

Joubert syndrome|Joubert syndrome 28|Bardet-Biedl syndrome 13|Meckel syndrome, type 1|Meckel-Gruber syndrome|Joubert syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.